GENETICS OF PITUITARY, BONE AND GROWTH DISORDERS
Research type
Research Study
Full title
GENETIC INVESTIGATIONS IN PATIENTS WITH PITUITARY, BONE AND GROWTH DISORDERS
IRAS ID
275668
Contact name
Eveline Gevers
Contact email
Sponsor organisation
Queen Mary University of London
Clinicaltrials.gov Identifier
1044918, Worktribe
Duration of Study in the UK
20 years, 0 months, 1 days
Research summary
This study aims to discover new genetic variants causing rare endocrine disorders, especially hypopituitarism (under activity of the pituitary gland, a hormone producing gland just below the brain), growth and bone disorders. In the study, we will collect clinical information and DNA samples from children with hypopituitarism, growth and bone/cartilage disorders, to understand mechanisms by which gene mutations result in these conditions. In depth detailed clinical discription of the children affected with the condition, and if available, family members, in combination with discoveries of new genetic abnormalities, will enhance our knowledge of these endocrine diseases, and may bring targeted treatment for specific conditions and gene abnormalities closer. Discovery of underlying genetic variants will often also lead to better prediction of the progression of the condition for the child and the family and allow for genetic advice and pre-natal testing. Patients will be from our own cohort of children with endocrine conditions, and will be referred, but we also will collaborate with other Paediatric and Adult Endocrine departments to identify patients as well as other relevant clinical departments to identify patients with particular syndromes related to pituitary, bone and growth disorders (eg Neurosurgery, Orthopaedics, Neurology, Craniofacial Surgery ) and patient associations for particular syndromes.
REC name
West Midlands - Coventry & Warwickshire Research Ethics Committee
REC reference
23/WM/0126
Date of REC Opinion
19 Sep 2023
REC opinion
Further Information Favourable Opinion